Detalhe da pesquisa
1.
Clinical variants paired with phenotype: A rich resource for brain gene curation.
Genet Med
; 26(3): 101035, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38059438
2.
Low adenoma burden in unselected patients with a pathogenic APC variant.
Genet Med
; 25(12): 100949, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37542411
3.
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.
J Med Genet
; 59(11): 1058-1068, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35232796
4.
TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.
Am J Hum Genet
; 105(6): 1126-1147, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31735293
5.
Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort.
BMC Med
; 20(1): 205, 2022 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35668420
6.
Frequency of truncating FLCN variants and Birt-Hogg-Dubé-associated phenotypes in a health care system population.
Genet Med
; 24(9): 1857-1866, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35639097
7.
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.
Genet Med
; 24(9): 1899-1908, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35616647
8.
Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry.
Genet Med
; 23(9): 1738-1745, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34007001
9.
Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties.
Genet Med
; 22(4): 785-792, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31754268
10.
Positive impact of genetic counseling assistants on genetic counseling efficiency, patient volume, and cost in a cancer genetics clinic.
Genet Med
; 22(8): 1348-1354, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32350418
11.
Pediatric reporting of genomic results study (PROGRESS): a mixed-methods, longitudinal, observational cohort study protocol to explore disclosure of actionable adult- and pediatric-onset genomic variants to minors and their parents.
BMC Pediatr
; 20(1): 222, 2020 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32414353
12.
The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants.
Hum Mutat
; 39(11): 1660-1667, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311381
13.
ClinGen's GenomeConnect registry enables patient-centered data sharing.
Hum Mutat
; 39(11): 1668-1676, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311371
14.
Response to van Riel et al.
Genet Med
; 25(1): 161-163, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36609148
15.
Incorporating Social Media into your Support Tool Box: Points to Consider from Genetics-Based Communities.
J Genet Couns
; 27(2): 470-480, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29130143
16.
Birt-Hogg-Dubé symptoms in Smith-Magenis syndrome include pediatric-onset pneumothorax.
Am J Med Genet A
; 185(6): 1922-1924, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33666332
17.
Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder.
Genes (Basel)
; 15(4)2024 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38674358
18.
The Brain Gene Registry: a data snapshot.
J Neurodev Disord
; 16(1): 17, 2024 Apr 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38632549
19.
Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms.
Annu Rev Biomed Data Sci
; 2024 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38663031
20.
Thyroidectomy Outcomes in Patients Identified With RET Pathogenic Variants Through a Population Genomic Screening Program.
JAMA Otolaryngol Head Neck Surg
; 149(3): 195-202, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36602781